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L-2-hydroxyglutaric aciduria: two further cases.
Divry P, Jakobs C, Vianey-Saban C, Gibson KM, Michelakakis H, Papadimitriou A, Divari R, Chabrol B, Cournelle MA, Livet MO. Divry P, et al. Among authors: jakobs c. J Inherit Metab Dis. 1993;16(3):505-7. doi: 10.1007/BF00711666. J Inherit Metab Dis. 1993. PMID: 7609438 No abstract available.
Inherited disorders of GABA metabolism.
Jakobs C, Jaeken J, Gibson KM. Jakobs C, et al. J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902. J Inherit Metab Dis. 1993. PMID: 8412016 Review.
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Knerr I, et al. Among authors: jakobs c. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. Kranendijk M, et al. Among authors: jakobs c. J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821142
578 results